NADSYN1, NAD synthetase 1, 55191

N. diseases: 14; N. variants: 11
Disease: Absent kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426706
Disease: Absent kidney
Absent kidney 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020
CUI: C0426706
Disease: Absent kidney
Absent kidney 		0.300 Biomarker phenotype GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644 2020